ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2573A>G (p.Asn858Ser) (rs756238772)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231686 SCV000285850 benign Epileptic encephalopathy, early infantile, 36 2016-03-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716885 SCV000847730 uncertain significance History of neurodevelopmental disorder 2017-04-14 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000862962 SCV001003542 benign not provided 2018-05-31 criteria provided, single submitter clinical testing

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