ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn) (rs144947610)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710545 SCV000840786 likely benign not provided 2018-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719452 SCV000850319 likely benign Autism spectrum disorder 2018-05-03 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Does not segregate with disease in family study (genes with incomplete penetrance)
Invitae RCV000710545 SCV001097553 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Mendelics RCV000989663 SCV001140195 likely benign ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS 2019-05-28 criteria provided, single submitter clinical testing

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