ClinVar Miner

Submissions for variant NM_004230.4(S1PR2):c.717A>G (p.Leu239=)

gnomAD frequency: 0.00078  dbSNP: rs150395684
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001594555 SCV001829664 likely benign not provided 2020-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001594555 SCV002397894 benign not provided 2021-09-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001594555 SCV005208199 likely benign not provided criteria provided, single submitter not provided

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