ClinVar Miner

Submissions for variant NM_001957.4(EDNRA):c.969T>C (p.His323=)

gnomAD frequency: 0.34483  dbSNP: rs5333
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001648294 SCV001856200 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658370 SCV001875930 benign Mandibulofacial dysostosis with alopecia 2021-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001648294 SCV002395898 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001648294 SCV005305416 benign not provided criteria provided, single submitter not provided

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