ClinVar Miner

Submissions for variant NM_002979.5(SCP2):c.900C>T (p.Asp300=)

gnomAD frequency: 0.00108  dbSNP: rs148423275
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597467 SCV000707647 uncertain significance not provided 2017-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000597467 SCV001072489 benign not provided 2024-01-22 criteria provided, single submitter clinical testing

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