ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.2442+14G>C

gnomAD frequency: 0.00002  dbSNP: rs1434250691
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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 RCV002155936 SCV002466141 likely benign Majeed syndrome 2024-12-02 criteria provided, single submitter clinical testing

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