ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.799-19A>C

gnomAD frequency: 0.00046  dbSNP: rs367820578
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127585 SCV000171162 benign not specified 2014-05-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001849909 SCV002237093 likely benign Neuronal ceroid lipofuscinosis 1 2025-01-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675769 SCV000801490 likely benign not provided 2017-09-27 no assertion criteria provided clinical testing

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