ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.628C>T (p.Arg210Cys)

dbSNP: rs2031759596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330618 SCV001522357 pathogenic Baraitser-winter syndrome 2 2020-10-21 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252691 SCV001163834 likely pathogenic Microcephaly no assertion criteria provided research

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