ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.885C>T (p.His295=)

gnomAD frequency: 0.00003  dbSNP: rs752378780
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248725 SCV000316139 likely benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000664791 SCV000788806 likely benign Ellis-van Creveld syndrome 2016-12-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000941060 SCV001086939 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-12-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812743 SCV002048521 likely benign not provided 2021-11-30 criteria provided, single submitter clinical testing

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