ClinVar Miner

Submissions for variant NM_005413.4(SIX3):c.525G>A (p.Gln175=)

gnomAD frequency: 0.00907  dbSNP: rs116680477
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173373 SCV000224477 benign not specified 2015-04-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000173373 SCV000311040 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084820 SCV000638457 benign Holoprosencephaly 2 2024-12-16 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713304 SCV000843894 benign not provided 2018-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000713304 SCV001860991 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000713304 SCV004563884 benign not provided 2023-09-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000713304 SCV005263907 likely benign not provided criteria provided, single submitter not provided

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