ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.1722C>T (p.Ser574=)

gnomAD frequency: 0.00001  dbSNP: rs144282017
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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 RCV001510798 SCV001717925 benign Majeed syndrome 2023-12-25 criteria provided, single submitter clinical testing

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