ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.790-5G>A

gnomAD frequency: 0.00001  dbSNP: rs377291339
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146966 SCV000194301 likely benign not specified 2013-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000826275 SCV000967858 likely benign not provided 2018-04-30 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000826275 SCV004260992 benign not provided 2023-05-30 criteria provided, single submitter clinical testing

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