ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.17G>A (p.Gly6Asp) (rs1057518648)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000414923 SCV000328707 likely pathogenic Coffin-Siris syndrome 1 2015-03-26 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in ARID1B (NM_017519.2, c.17G>A) and KMT2A (NM_005933.2, c.2318dup) in one individual with reported features of delayed motor milestones, delayed speech, intellectual disability, hypotonia, double jointed, strabismus, bicuspid aortic valve and inferior urethra.

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