ClinVar Miner

Submissions for variant NM_000285.4(PEPD):c.624+16G>A

gnomAD frequency: 0.00383  dbSNP: rs142369843
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516115 SCV001724342 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001516115 SCV005314823 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001516115 SCV001923525 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001516115 SCV001932905 likely benign not provided no assertion criteria provided clinical testing

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