ClinVar Miner

Submissions for variant NM_004371.4(COPA):c.778C>T (p.Arg260Cys)

gnomAD frequency: 0.00009  dbSNP: rs773636602
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000808488 SCV000948598 likely benign Autoimmune interstitial lung disease-arthritis syndrome 2023-06-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000808488 SCV004041519 uncertain significance Autoimmune interstitial lung disease-arthritis syndrome 2023-02-08 criteria provided, single submitter clinical testing

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