ClinVar Miner

Submissions for variant NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe) (rs77132068)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000991940 SCV001143834 likely benign not provided 2019-04-10 criteria provided, single submitter clinical testing
GeneDx RCV000991940 SCV001817871 likely benign not provided 2021-07-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20127975, 17223014, 16145050)
GenomeConnect, ClinGen RCV000709963 SCV000840327 not provided ABCD syndrome; Hirschsprung disease 2; Waardenburg syndrome type 4A no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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