ClinVar Miner

Submissions for variant NM_020971.3(SPTBN4):c.7320-8C>T

gnomAD frequency: 0.00096  dbSNP: rs375612664
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909258 SCV001054055 benign not provided 2018-05-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902860 SCV004720907 likely benign SPTBN4-related disorder 2019-08-12 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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