ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1690G>A (p.Val564Ile)

gnomAD frequency: 0.00623  dbSNP: rs35722504
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504354 SCV000596224 benign not specified 2016-11-14 criteria provided, single submitter clinical testing
Invitae RCV000653143 SCV000775019 benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2024-01-31 criteria provided, single submitter clinical testing

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