ClinVar Miner

Submissions for variant NM_001957.4(EDNRA):c.549-10T>C

gnomAD frequency: 0.00048  dbSNP: rs10305905
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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 RCV000896708 SCV001040815 likely benign not provided 2024-11-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495427 SCV002803137 likely benign Mandibulofacial dysostosis with alopecia; Migraine with or without aura, susceptibility to, 1 2021-07-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003922882 SCV004743341 likely benign EDNRA-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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