ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1059C>T (p.Ala353=)

gnomAD frequency: 0.00003  dbSNP: rs756025432
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000968956 SCV001116440 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563965 SCV001787033 likely benign Curry-Hall syndrome 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563966 SCV001787034 likely benign Ellis-van Creveld syndrome 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001563966 SCV002083025 likely benign Ellis-van Creveld syndrome 2020-07-02 no assertion criteria provided clinical testing

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