ClinVar Miner

Submissions for variant NM_015426.5(POC1A):c.149C>T (p.Pro50Leu)

gnomAD frequency: 0.00758  dbSNP: rs11546882
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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 RCV000966871 SCV001114228 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000966871 SCV001882458 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000966871 SCV005306267 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000118006 SCV000152324 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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