ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1192+4C>T

gnomAD frequency: 0.00018  dbSNP: rs185546844
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435392 SCV000523804 likely benign not specified 2016-02-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000891586 SCV001035408 benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2023-12-11 criteria provided, single submitter clinical testing

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