ClinVar Miner

Submissions for variant NM_144498.4(OSBPL2):c.394-17C>T

gnomAD frequency: 0.37206  dbSNP: rs2236526
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001595501 SCV001829740 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788592 SCV002029318 benign Autosomal dominant nonsyndromic hearing loss 67 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001595501 SCV002393911 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001595501 SCV005308227 benign not provided criteria provided, single submitter not provided

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