ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1896G>T (p.Arg632=)

gnomAD frequency: 0.00004  dbSNP: rs758327867
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000887631 SCV001031202 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825790 SCV002083046 likely benign Ellis-van Creveld syndrome 2020-01-27 no assertion criteria provided clinical testing

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