ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1820A>G (p.Asn607Ser)

gnomAD frequency: 0.00140  dbSNP: rs115475262
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000273420 SCV000341132 benign not specified 2016-05-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000273420 SCV000594497 benign not specified 2015-12-14 criteria provided, single submitter clinical testing
Invitae RCV003765650 SCV000640924 benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2023-08-04 criteria provided, single submitter clinical testing
GeneDx RCV001723874 SCV001950677 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910000 SCV004718567 benign EFHC1-related condition 2020-01-06 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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