ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1741G>A (p.Gly581Arg) (rs75007073)

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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 RCV000503262 SCV000596223 benign not specified 2017-03-21 criteria provided, single submitter clinical testing
Invitae RCV000528497 SCV000656464 benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 2019-12-31 criteria provided, single submitter clinical testing

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