ClinVar Miner

Submissions for variant NM_031220.4(PITPNM3):c.2307-13del

gnomAD frequency: 0.00205  dbSNP: rs553739885
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000295274 SCV000405820 likely benign Cone-Rod Dystrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001519659 SCV001728556 benign not provided 2025-01-06 criteria provided, single submitter clinical testing

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