ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1102A>T (p.Ser368Cys)

gnomAD frequency: 0.00050  dbSNP: rs138984302
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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 RCV000502702 SCV000596229 likely benign not specified 2017-06-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000653145 SCV000775021 benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2024-01-25 criteria provided, single submitter clinical testing

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