ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.562+16C>A

gnomAD frequency: 0.00015  dbSNP: rs552346452
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002193766 SCV002484242 benign Holoprosencephaly 3 2023-12-01 criteria provided, single submitter clinical testing

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