ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.54G>C (p.Gly18=)

gnomAD frequency: 0.00096  dbSNP: rs149268490
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000891194 SCV001034992 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000891194 SCV005041534 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing FN1: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics RCV000891194 SCV005243930 benign not provided criteria provided, single submitter not provided

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