ClinVar Miner

Submissions for variant NM_004447.6(EPS8):c.1638C>T (p.Asn546=)

gnomAD frequency: 0.00119  dbSNP: rs149455769
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596676 SCV000705838 uncertain significance not provided 2017-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000596676 SCV001026360 benign not provided 2024-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000596676 SCV001838781 likely benign not provided 2020-09-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905536 SCV004725646 likely benign EPS8-related disorder 2020-01-06 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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