ClinVar Miner

Submissions for variant NM_018699.4(PRDM5):c.300+17C>T

gnomAD frequency: 0.00009  dbSNP: rs376707809
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418700 SCV000535384 likely benign not specified 2016-12-23 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.
Fulgent Genetics, Fulgent Genetics RCV002481339 SCV002798965 likely benign Brittle cornea syndrome 2 2022-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766451 SCV004687403 likely benign not provided 2024-12-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000418700 SCV006071495 likely benign not specified 2025-03-24 criteria provided, single submitter clinical testing

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