Submissions for variant NM_000315.4(PTH):c.247C>A (p.Arg83=)

gnomAD frequency: 0.12676  dbSNP: rs6256

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245073	SCV000303576	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000334070	SCV000369063	benign	Familial hypoparathyroidism	2018-03-06	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001707571	SCV001934716	benign	not provided	2021-05-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001795388	SCV002033289	benign	Hypoparathyroidism, familial isolated 1	2021-11-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001707571	SCV003220930	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001707571	SCV005323488	benign	not provided		criteria provided, single submitter	not provided