ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.301-49G>A

gnomAD frequency: 0.48163  dbSNP: rs1233555
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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 RCV000251109 SCV000302916 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001537620 SCV001754519 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807151 SCV002055210 benign Holoprosencephaly 3 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807153 SCV002055211 benign Microphthalmia, isolated, with coloboma 5 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807152 SCV002055212 benign Solitary median maxillary central incisor syndrome 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001537620 SCV005269474 benign not provided criteria provided, single submitter not provided

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