ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.219G>A (p.Ala73=)

gnomAD frequency: 0.00004  dbSNP: rs759816860
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001449197 SCV001652306 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-12-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711454 SCV005256686 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001276222 SCV001462215 likely benign Ellis-van Creveld syndrome 2020-04-21 no assertion criteria provided clinical testing

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