ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.345+17del

dbSNP: rs746808032
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588773 SCV000699377 benign not provided 2017-07-31 criteria provided, single submitter clinical testing Variant summary: The ANKRD1 c.345+17delT variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1114/109740 control chromosomes from ExAC at a frequency of 0.0101513, which is approximately 295 times the estimated maximal expected allele frequency of a pathogenic ANKRD1 variant (0.0000344), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as benign.
Invitae RCV002061989 SCV002408907 benign ANKRD1-related dilated cardiomyopathy 2023-01-26 criteria provided, single submitter clinical testing

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