Submissions for variant NM_004407.4(DMP1):c.844C>A (p.Leu282Ile)

dbSNP: rs141979823

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000359946	SCV000451506	likely benign	Hypophosphatemic rickets, autosomal recessive, 1	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000762099	SCV000892357	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	DMP1: BP4, BS2
Labcorp Genetics (formerly Invitae), Labcorp	RCV000762099	SCV001030900	benign	not provided	2025-01-28	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000359946	SCV001367518	benign	Hypophosphatemic rickets, autosomal recessive, 1	2018-10-15	criteria provided, single submitter	clinical testing	This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
Fulgent Genetics, Fulgent Genetics	RCV000359946	SCV002807410	benign	Hypophosphatemic rickets, autosomal recessive, 1	2021-07-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000762099	SCV004040156	likely benign	not provided	2023-10-04	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics	RCV000762099	SCV005260187	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000762099	SCV001797477	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000762099	SCV001971680	likely benign	not provided		no assertion criteria provided	clinical testing