ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.1268+7T>C

gnomAD frequency: 0.00001  dbSNP: rs1375096557
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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 RCV002081979 SCV002428408 likely benign Majeed syndrome 2022-12-01 criteria provided, single submitter clinical testing

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