ClinVar Miner

Submissions for variant NM_001040616.3(LINS1):c.1940G>A (p.Ser647Asn)

gnomAD frequency: 0.00073  dbSNP: rs150317593
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624679 SCV000740773 uncertain significance Inborn genetic diseases 2014-12-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000883427 SCV001026735 likely benign not provided 2018-03-29 criteria provided, single submitter clinical testing
GeneDx RCV000883427 SCV005371373 uncertain significance not provided 2023-06-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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