ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1457C>T (p.Ala486Val)

gnomAD frequency: 0.00008  dbSNP: rs188859975
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001343250 SCV001537219 benign Multiple congenital exostosis 2024-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925187 SCV004738582 likely benign EXT1-related disorder 2019-10-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000120875 SCV000085043 not provided not specified 2013-09-19 no assertion provided reference population
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252925 SCV001164068 uncertain significance Microcephaly no assertion criteria provided research

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