ClinVar Miner

Submissions for variant NM_001940.4(ATN1):c.3185A>G (p.His1062Arg)

dbSNP: rs1565569158
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sydney Children's Hospital, SCHN RCV000779621 SCV000853264 likely pathogenic Congenital ATN1 related disorder 2018-11-27 no assertion criteria provided clinical testing De novo variant in highly constrained HX domain with characteristic phenotypic features of CARD.
OMIM RCV000787321 SCV000926251 pathogenic Congenital hypotonia, epilepsy, developmental delay, and digital anomalies 2019-07-12 no assertion criteria provided literature only

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