ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.*129C>T

gnomAD frequency: 0.00030  dbSNP: rs145978994
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990968 SCV001142042 benign Child syndrome 2019-05-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943296 SCV004770288 likely benign NSDHL-related disorder 2019-11-27 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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