ClinVar Miner

Submissions for variant NM_004595.5(SMS):c.171C>T (p.Ser57=)

gnomAD frequency: 0.00019  dbSNP: rs201558273
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000902528 SCV001046952 benign not provided 2023-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399993 SCV002712592 benign Inborn genetic diseases 2017-09-21 criteria provided, single submitter clinical testing This alteration is classified as 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000902528 SCV001799642 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000902528 SCV001931722 likely benign not provided no assertion criteria provided clinical testing

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