ClinVar Miner

Submissions for variant NM_004826.4(ECEL1):c.982C>T (p.His328Tyr)

gnomAD frequency: 0.96312  dbSNP: rs1529874
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116938 SCV000151047 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000116938 SCV000310700 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001650955 SCV001870952 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657722 SCV001875897 benign Distal arthrogryposis type 5D 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001650955 SCV005245993 benign not provided criteria provided, single submitter not provided

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