ClinVar Miner

Submissions for variant NM_002340.6(LSS):c.1788C>T (p.Phe596=)

gnomAD frequency: 0.00183  dbSNP: rs114786885
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000948107 SCV001094302 benign not provided 2023-05-11 criteria provided, single submitter clinical testing
GeneDx RCV000948107 SCV001829348 likely benign not provided 2020-01-15 criteria provided, single submitter clinical testing

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