ClinVar Miner

Submissions for variant NM_015330.6(SPECC1L):c.562C>T (p.Leu188Phe)

gnomAD frequency: 0.00780  dbSNP: rs56168869
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514345 SCV000609755 likely benign not provided 2017-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514345 SCV001119368 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514345 SCV002544705 benign not provided 2024-05-01 criteria provided, single submitter clinical testing SPECC1L: BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV002481657 SCV002795862 likely benign Oculomaxillofacial dysostosis; Teebi hypertelorism syndrome 1 2022-04-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000514345 SCV005209097 likely benign not provided criteria provided, single submitter not provided

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