Submissions for variant NM_001378964.1(CDON):c.1051C>G (p.Pro351Ala)

gnomAD frequency: 0.01595  dbSNP: rs35665264

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252968	SCV000312772	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000528237	SCV000368754	benign	Holoprosencephaly 11	2018-01-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000528237	SCV000651581	benign	Holoprosencephaly 11	2025-01-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000528237	SCV001471689	benign	Holoprosencephaly 11	2023-08-23	criteria provided, single submitter	clinical testing
GeneDx	RCV002285297	SCV002575752	likely benign	not provided	2022-09-26	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics	RCV002285297	SCV005231201	benign	not provided		criteria provided, single submitter	not provided