ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.900C>T (p.His300=)

gnomAD frequency: 0.00001  dbSNP: rs747432731
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002213925 SCV002493833 likely benign Neuronal ceroid lipofuscinosis 1 2023-06-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002373046 SCV002688001 likely benign Inborn genetic diseases 2019-08-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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