ClinVar Miner

Submissions for variant NM_015330.6(SPECC1L):c.2560+46C>T

gnomAD frequency: 0.55421  dbSNP: rs5760351
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001710395 SCV001938358 benign not provided 2021-05-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810272 SCV002057572 benign Oculomaxillofacial dysostosis 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810273 SCV002057573 benign Autosomal dominant Opitz G/BBB syndrome 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810274 SCV002057575 benign Teebi hypertelorism syndrome 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001710395 SCV005278465 benign not provided criteria provided, single submitter not provided

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