ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.1295T>C (p.Val432Ala)

gnomAD frequency: 0.60624  dbSNP: rs6979
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001516429 SCV001724705 benign Dyskeratosis congenita, autosomal dominant 6 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001664943 SCV001872455 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001516429 SCV002524362 benign Dyskeratosis congenita, autosomal dominant 6 2021-12-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487358 SCV004233130 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 68% of patients studied by a panel of primary immunodeficiencies. Number of patients: 65. Only high quality variants are reported.
GenomeConnect, ClinGen RCV001664943 SCV002075274 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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