ClinVar Miner

Submissions for variant NC_000001.11:g.145919695T>C

gnomAD frequency: 0.00503  dbSNP: rs61746197
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Branch, National Institutes of Health RCV000856620 SCV000995062 likely pathogenic Radial aplasia-thrombocytopenia syndrome 2019-09-16 no assertion criteria provided research The 1q21.1 TAR-associated deletion in combination with the G variant of rs61746197 on the non-deleted allele is associated with a TAR-like phenotype. rs61746197 G could be a functional enhancer/repressor element but more studies are required to identify the specific factor(s) responsible. Overall, our findings suggest a role of rs61746197 A>G and human disease in the setting of a 1q21.1 deletion on the other chromosome.

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