ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.3696C>T (p.Asp1232=)

gnomAD frequency: 0.00006  dbSNP: rs145657360
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000874257 SCV000410219 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000874257 SCV001016402 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2024-01-15 criteria provided, single submitter clinical testing

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