ClinVar Miner

Submissions for variant NM_152703.5(SAMD9L):c.1584A>G (p.Leu528=)

gnomAD frequency: 0.00021  dbSNP: rs564887315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002097174 SCV002329885 benign not provided 2024-11-25 criteria provided, single submitter clinical testing
GeneDx RCV002097174 SCV002520217 likely benign not provided 2021-03-18 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV004956203 SCV005497655 likely benign Inborn genetic diseases 2024-11-20 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.

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