ClinVar Miner

Submissions for variant NM_001289104.2(PRKCSH):c.1338C>T (p.Leu446=)

dbSNP: rs540593191
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002194393 SCV002485127 benign not provided 2024-01-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496127 SCV002809130 likely benign Polycystic liver disease 1 2021-12-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002194393 SCV005314648 benign not provided criteria provided, single submitter not provided

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