ClinVar Miner

Submissions for variant NM_002472.3(MYH8):c.225G>C (p.Arg75Ser)

gnomAD frequency: 0.00220  dbSNP: rs146732664
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000910866 SCV000513816 benign not provided 2020-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000910866 SCV001055917 benign not provided 2018-08-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001120569 SCV001279063 benign Hecht syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
PreventionGenetics, part of Exact Sciences RCV003891909 SCV000308997 benign MYH8-related disorder 2021-07-28 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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