ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.4699G>C (p.Asp1567His)

gnomAD frequency: 0.00318  dbSNP: rs138126360
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002068749 SCV001156956 likely benign not provided 2023-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068749 SCV002419938 benign not provided 2024-01-16 criteria provided, single submitter clinical testing

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