ClinVar Miner

Submissions for variant NM_001256715.2(DNAAF3):c.1405G>A (p.Val469Met) (rs114601492)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000272291 SCV000483807 likely benign Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328313 SCV000483808 likely benign Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382901 SCV000483809 likely benign Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269571 SCV000483810 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000477096 SCV000561300 benign Primary ciliary dyskinesia 2020-12-06 criteria provided, single submitter clinical testing

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