ClinVar Miner

Submissions for variant NM_198282.4(STING1):c.380C>T (p.Ser127Leu)

gnomAD frequency: 0.00002  dbSNP: rs149528532
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000923242 SCV001068710 likely benign STING-associated vasculopathy with onset in infancy 2024-12-15 criteria provided, single submitter clinical testing

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