ClinVar Miner

Submissions for variant NM_032208.3(ANTXR1):c.1185+16C>A

gnomAD frequency: 0.45542  dbSNP: rs6749826
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250804 SCV000314894 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554004 SCV001775143 benign GAPO syndrome 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001709556 SCV001937246 benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001709556 SCV002410173 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316452 SCV004017405 benign Capillary infantile hemangioma 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001709556 SCV005246302 benign not provided criteria provided, single submitter not provided

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