ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.891C>T (p.Asp297=)

gnomAD frequency: 0.00115  dbSNP: rs5935
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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 RCV000233040 SCV000284568 benign Thrombophilia due to protein C deficiency, autosomal dominant 2025-01-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000233040 SCV000416372 likely benign Thrombophilia due to protein C deficiency, autosomal dominant 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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