ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.3689+1G>C (rs1057518691)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000415272 SCV000328796 pathogenic Coffin-Siris syndrome 1 2015-02-13 no assertion criteria provided clinical testing This pathogenic variant was reported in an individual with delayed motor milestones, delayed speech, intellectual disability, history of failure to thrive, mild scoliosis, hypoglycemia, history of seizure during an episode of coma associated with hypoglycemia and metabolic acidosis, and G6PD deficiency. A homozygous pathogenic variant in G6PD (NM_001042351.1, c.563C>T) was reported in the same individual.

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