ClinVar Miner

Submissions for variant NM_001034852.3(SMOC1):c.567G>A (p.Pro189=)

gnomAD frequency: 0.00290  dbSNP: rs142590267
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000345693 SCV000340830 likely benign not specified 2016-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000966429 SCV001113749 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494866 SCV002801999 likely benign Microphthalmia with limb anomalies 2021-09-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000966429 SCV004136846 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing SMOC1: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000966429 SCV005212460 likely benign not provided criteria provided, single submitter not provided

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