ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.700T>A (p.Trp234Arg)

dbSNP: rs1057524157
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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 RCV000515517 SCV000590958 likely pathogenic Intellectual disability, autosomal dominant 24 2017-08-17 criteria provided, single submitter research This variant was identified in a research cohort, de novo in a 4-year-old male with global delays, developmental regression, seizures with normal EEG, hypotonia, slight tremor, sleeping problems, repetitive behavior, aggressive behavior, self-injurious behavior, pica, mild dysmorphisms, pes planus, mild 2-3 syndactyly, frequent otitis media. This patient has been previously reported (PMID 28213671).
OMIM RCV000515517 SCV001334281 pathogenic Intellectual disability, autosomal dominant 24 2020-06-01 no assertion criteria provided literature only

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