ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.1338C>T (p.Ser446=)

gnomAD frequency: 0.00006  dbSNP: rs753669833
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001496336 SCV001701034 likely benign Majeed syndrome 2021-01-08 criteria provided, single submitter clinical testing

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