ClinVar Miner

Submissions for variant NM_178161.3(PTF1A):c.*190C>T

gnomAD frequency: 0.04559  dbSNP: rs74121767
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000336536 SCV000361887 likely benign Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 2017-04-27 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.
GeneDx RCV001683208 SCV001904376 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683208 SCV005227075 likely benign not provided criteria provided, single submitter not provided

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