ClinVar Miner

Submissions for variant NM_015141.4(GPD1L):c.897C>T (p.Leu299=)

gnomAD frequency: 0.00009  dbSNP: rs192905901
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622229 SCV000736470 likely benign Cardiovascular phenotype 2017-11-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000638782 SCV000760331 likely benign Brugada syndrome 2024-10-07 criteria provided, single submitter clinical testing
GeneDx RCV001662667 SCV001873949 likely benign not provided 2021-02-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005056335 SCV005727176 benign not specified 2024-11-04 criteria provided, single submitter clinical testing

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