ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.893G>T (p.Trp298Leu)

gnomAD frequency: 0.00143  dbSNP: rs139186585
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000876487 SCV001019066 likely benign not provided 2024-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478993 SCV002799049 likely benign Child syndrome; CK syndrome 2021-07-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955743 SCV004772526 likely benign NSDHL-related disorder 2021-10-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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